Incidental Mutation 'R0230:Slco1a5'
| ID |
34049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a5
|
| Ensembl Gene |
ENSMUSG00000063975 |
| Gene Name |
solute carrier organic anion transporter family, member 1a5 |
| Synonyms |
Slc21a7, Oatp3 |
| MMRRC Submission |
038473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0230 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 142182054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
4.3e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111825
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
5.8e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153268
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157614
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
| Validation Efficiency |
100% (83/83) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amy1 |
T |
C |
3: 113,352,079 (GRCm39) |
D371G |
probably benign |
Het |
| Asrgl1 |
T |
A |
19: 9,095,883 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,585,383 (GRCm39) |
|
probably benign |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,471,978 (GRCm39) |
H74R |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,158,995 (GRCm39) |
T504M |
probably damaging |
Het |
| Cdk12 |
T |
G |
11: 98,094,817 (GRCm39) |
S208R |
probably damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,368,576 (GRCm39) |
L81P |
probably damaging |
Het |
| Chrd |
T |
C |
16: 20,552,025 (GRCm39) |
L43P |
probably benign |
Het |
| Col6a4 |
A |
C |
9: 105,949,565 (GRCm39) |
M690R |
probably benign |
Het |
| Cyp39a1 |
A |
T |
17: 44,042,903 (GRCm39) |
R418W |
probably damaging |
Het |
| Dars2 |
C |
T |
1: 160,890,357 (GRCm39) |
V162M |
probably benign |
Het |
| Dixdc1 |
C |
T |
9: 50,606,807 (GRCm39) |
V270M |
possibly damaging |
Het |
| Dnah11 |
C |
A |
12: 117,946,791 (GRCm39) |
E1194* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,258,508 (GRCm39) |
S1900P |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,746,141 (GRCm39) |
E3991K |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,381,681 (GRCm39) |
I2210F |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,886,949 (GRCm39) |
S556G |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,637,514 (GRCm39) |
|
probably benign |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,440,168 (GRCm39) |
D579G |
probably damaging |
Het |
| Ephb3 |
A |
T |
16: 21,039,525 (GRCm39) |
I426F |
probably damaging |
Het |
| Fam135b |
T |
G |
15: 71,317,886 (GRCm39) |
I1359L |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,250 (GRCm39) |
H2012Q |
probably damaging |
Het |
| Gm16519 |
T |
C |
17: 71,236,128 (GRCm39) |
S26P |
probably benign |
Het |
| Gm17622 |
T |
A |
13: 96,627,594 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
G |
A |
2: 127,277,765 (GRCm39) |
V764I |
possibly damaging |
Het |
| Gpx4 |
G |
A |
10: 79,890,838 (GRCm39) |
A81T |
probably benign |
Het |
| Gss |
C |
A |
2: 155,420,326 (GRCm39) |
R83L |
probably damaging |
Het |
| Hcls1 |
C |
A |
16: 36,758,216 (GRCm39) |
Q36K |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,463,336 (GRCm39) |
V438A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,401,005 (GRCm39) |
F184S |
probably damaging |
Het |
| Katnal1 |
T |
A |
5: 148,855,460 (GRCm39) |
D90V |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,174,083 (GRCm39) |
D30G |
probably benign |
Het |
| Kyat1 |
T |
C |
2: 30,084,087 (GRCm39) |
E11G |
probably benign |
Het |
| Lefty1 |
T |
A |
1: 180,764,579 (GRCm39) |
V168E |
probably damaging |
Het |
| Map2k6 |
C |
T |
11: 110,387,281 (GRCm39) |
P218S |
probably damaging |
Het |
| Mlkl |
C |
G |
8: 112,041,694 (GRCm39) |
K415N |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,211,390 (GRCm39) |
M1593K |
probably benign |
Het |
| Myo19 |
T |
A |
11: 84,784,159 (GRCm39) |
C186S |
possibly damaging |
Het |
| Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
| Nkiras1 |
A |
G |
14: 18,280,185 (GRCm38) |
N192S |
probably benign |
Het |
| Or1j17 |
G |
A |
2: 36,578,628 (GRCm39) |
V205M |
probably benign |
Het |
| Or2n1 |
A |
G |
17: 38,486,841 (GRCm39) |
I289V |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,886 (GRCm39) |
I92V |
probably benign |
Het |
| Pdcd6ip |
A |
G |
9: 113,514,361 (GRCm39) |
|
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,454,707 (GRCm39) |
Y186H |
probably benign |
Het |
| Pex7 |
A |
G |
10: 19,780,331 (GRCm39) |
V101A |
possibly damaging |
Het |
| Phldb3 |
G |
A |
7: 24,312,004 (GRCm39) |
R106Q |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,635,209 (GRCm39) |
V1339A |
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,386,383 (GRCm39) |
N755S |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,674,997 (GRCm39) |
D658G |
probably damaging |
Het |
| Rassf8 |
A |
C |
6: 145,765,700 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
G |
A |
16: 22,932,849 (GRCm39) |
Q363* |
probably null |
Het |
| Rxfp1 |
T |
C |
3: 79,552,282 (GRCm39) |
N673S |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,556,628 (GRCm39) |
E319G |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,984 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,423,971 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,301,262 (GRCm39) |
N184D |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,260,867 (GRCm39) |
|
probably benign |
Het |
| Smarca4 |
G |
A |
9: 21,612,168 (GRCm39) |
V1518I |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 179,250,993 (GRCm39) |
|
probably benign |
Het |
| Sox5 |
A |
G |
6: 144,155,064 (GRCm39) |
F11L |
probably benign |
Het |
| Spag17 |
T |
C |
3: 100,014,143 (GRCm39) |
S2139P |
probably benign |
Het |
| Spice1 |
A |
T |
16: 44,185,939 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,900,704 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,066,286 (GRCm39) |
N571K |
probably damaging |
Het |
| Tbl3 |
A |
G |
17: 24,920,307 (GRCm39) |
L670P |
probably damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,359 (GRCm39) |
V114A |
possibly damaging |
Het |
| Tmigd3 |
A |
G |
3: 105,826,053 (GRCm39) |
N132D |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,778 (GRCm39) |
D19378G |
probably damaging |
Het |
| Ugcg |
C |
A |
4: 59,189,739 (GRCm39) |
Y32* |
probably null |
Het |
| Ush2a |
C |
T |
1: 188,582,301 (GRCm39) |
P3788L |
probably damaging |
Het |
| Usp22 |
T |
A |
11: 61,050,023 (GRCm39) |
|
probably benign |
Het |
| Xaf1 |
T |
C |
11: 72,197,381 (GRCm39) |
|
probably benign |
Het |
| Zbtb41 |
C |
T |
1: 139,374,673 (GRCm39) |
T711I |
probably damaging |
Het |
| Zfp457 |
T |
C |
13: 67,442,180 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zfp64 |
T |
G |
2: 168,754,150 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slco1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Slco1a5
|
APN |
6 |
142,187,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01432:Slco1a5
|
APN |
6 |
142,182,012 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01590:Slco1a5
|
APN |
6 |
142,196,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01824:Slco1a5
|
APN |
6 |
142,198,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01915:Slco1a5
|
APN |
6 |
142,189,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01945:Slco1a5
|
APN |
6 |
142,189,715 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02078:Slco1a5
|
APN |
6 |
142,200,172 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02178:Slco1a5
|
APN |
6 |
142,208,414 (GRCm39) |
nonsense |
probably null |
|
|
IGL02366:Slco1a5
|
APN |
6 |
142,195,941 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02395:Slco1a5
|
APN |
6 |
142,221,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02621:Slco1a5
|
APN |
6 |
142,187,741 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02752:Slco1a5
|
APN |
6 |
142,208,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02940:Slco1a5
|
APN |
6 |
142,187,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Slco1a5
|
APN |
6 |
142,194,569 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Slco1a5
|
APN |
6 |
142,180,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Slco1a5
|
UTSW |
6 |
142,214,004 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1217:Slco1a5
|
UTSW |
6 |
142,200,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Slco1a5
|
UTSW |
6 |
142,187,789 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2084:Slco1a5
|
UTSW |
6 |
142,180,437 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2393:Slco1a5
|
UTSW |
6 |
142,194,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2414:Slco1a5
|
UTSW |
6 |
142,181,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Slco1a5
|
UTSW |
6 |
142,195,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3420:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3421:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3827:Slco1a5
|
UTSW |
6 |
142,198,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3963:Slco1a5
|
UTSW |
6 |
142,194,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3977:Slco1a5
|
UTSW |
6 |
142,204,698 (GRCm39) |
splice site |
probably benign |
|
|
R4074:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4075:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4076:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4782:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4799:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4831:Slco1a5
|
UTSW |
6 |
142,180,431 (GRCm39) |
missense |
probably benign |
|
|
R5038:Slco1a5
|
UTSW |
6 |
142,212,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Slco1a5
|
UTSW |
6 |
142,208,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5063:Slco1a5
|
UTSW |
6 |
142,204,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Slco1a5
|
UTSW |
6 |
142,187,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5436:Slco1a5
|
UTSW |
6 |
142,200,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Slco1a5
|
UTSW |
6 |
142,187,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5602:Slco1a5
|
UTSW |
6 |
142,221,255 (GRCm39) |
start gained |
probably benign |
|
|
R5643:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5644:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5686:Slco1a5
|
UTSW |
6 |
142,182,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Slco1a5
|
UTSW |
6 |
142,194,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5792:Slco1a5
|
UTSW |
6 |
142,187,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Slco1a5
|
UTSW |
6 |
142,194,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5997:Slco1a5
|
UTSW |
6 |
142,198,839 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6146:Slco1a5
|
UTSW |
6 |
142,180,534 (GRCm39) |
missense |
probably benign |
|
|
R6377:Slco1a5
|
UTSW |
6 |
142,187,906 (GRCm39) |
splice site |
probably null |
|
|
R6466:Slco1a5
|
UTSW |
6 |
142,183,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6523:Slco1a5
|
UTSW |
6 |
142,212,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Slco1a5
|
UTSW |
6 |
142,194,401 (GRCm39) |
missense |
probably benign |
|
|
R7207:Slco1a5
|
UTSW |
6 |
142,194,475 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Slco1a5
|
UTSW |
6 |
142,180,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7430:Slco1a5
|
UTSW |
6 |
142,194,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7445:Slco1a5
|
UTSW |
6 |
142,204,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7499:Slco1a5
|
UTSW |
6 |
142,208,257 (GRCm39) |
splice site |
probably null |
|
|
R7579:Slco1a5
|
UTSW |
6 |
142,221,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8117:Slco1a5
|
UTSW |
6 |
142,208,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Slco1a5
|
UTSW |
6 |
142,208,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Slco1a5
|
UTSW |
6 |
142,221,202 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8358:Slco1a5
|
UTSW |
6 |
142,208,411 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8710:Slco1a5
|
UTSW |
6 |
142,198,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9071:Slco1a5
|
UTSW |
6 |
142,196,052 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9316:Slco1a5
|
UTSW |
6 |
142,195,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9427:Slco1a5
|
UTSW |
6 |
142,214,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTAAGGTTAGGAAGCCCACTAAAGTT -3'
(R):5'- CGAAGGGAATGGTTATGTTTGCTGGA -3'
Sequencing Primer
(F):5'- AGTGCAATTCTAAAGATGAAGCC -3'
(R):5'- cgtatacacacacacacacac -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation